The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia.

Prenatal diagnosis(2023)

Cited 1|Views9
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Abstract
Reproductive carrier screening tests for a targeted set of high frequency CF variants are unable to detect approximately 10% of CF variants in a multiethnic Australian population, and individuals of East Asian ethnicity are disproportionally affected by this test limitation.
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Key words
cystic fibrosis,screening,tests
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